{"orpha":399,"name":"Huntington disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Huntington chorea"],"definition":"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399/","orphanet_url":"https://www.orpha.net/en/disease/detail/399","names":{"fr":{"name":"Maladie de Huntington","synonyms":["Chorée de Huntington"],"definition":"La maladie de Huntington (MH) est une maladie neurodégénérative rare du système nerveux central caractérisée par des mouvements involontaires choréiques, des troubles comportementaux, des troubles psychiatriques et une démence."},"de":{"name":"Huntington-Krankheit","synonyms":["Chorea Huntington"],"definition":"Die Huntington-Krankheit (HD) ist eine seltene neurodegenerative Erkrankung des Zentralnervensystems mit unwillkürlichen choreatischen Bewegungen, Verhaltensauffälligkeiten, psychiatrischen Störungen und dementivem Abbau."},"es":{"name":"Enfermedad de Huntington","synonyms":["Corea de Huntington"],"definition":"La enfermedad de Huntington (EH) es un trastorno neurodegenerativo del sistema nervioso central caracterizado por movimientos coreicos involuntarios, trastornos conductuales y psiquiátricos, y demencia."},"it":{"name":"Malattia di Huntington","definition":"La malattia di Huntington (MH) è una malattia rara neurodegerativa del sistema nervoso centrale, caratterizzata da movimenti coreici involontari, disturbi psichiatrici e del comportamento e demenza."},"nl":{"name":"Ziekte van Huntington","synonyms":["Chorea van Huntington"],"definition":"Ziekte van Huntington (HD) is een zeldzame neurodegeneratieve stoornis van het centrale zenuwstelsel, gekarakteriseerd door onwillekeurige choreatische bewegingen, gedrags- en psychiatrische stoornissen en dementie."},"pt":{"name":"Doença de Huntington","synonyms":["Coreia de Huntington"],"definition":"A doença de Huntington (HD) é uma doença neurodegenerativa rara do sistema nervoso central caracterizada por movimentos coreicos indesejados, alterações comportamentais e psiquiátricas e demência."},"pl":{"name":"Choroba Huntingtona","synonyms":["pląsawica Huntingtona"],"definition":"Choroba Huntingtona (HD) to rzadka choroba neurodegeneracyjna ośrodkowego układu nerwowego charakteryzująca się mimowolnymi ruchami pląsawiczymi, zaburzeniami zachowania, zaburzeniami psychicznymi oraz demencją."},"cs":{"name":"Huntingtonova choroba","synonyms":["Huntingtonova chorea"]},"uk":{"name":"Хвороба Хантінгтона","synonyms":["Хорея Гентингтона"],"definition":"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia."},"zh":{"name":"亨廷顿舞蹈病","synonyms":["亨廷顿舞蹈症"]},"tr":{"name":"Huntington hastalığı","synonyms":["Huntington koresi"]}},"xrefs":[{"source":"OMIM","code":"143100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G10","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A01.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2132180242"},{"source":"MONDO","code":"0007739","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020179","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6677","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070668","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":306719,"name":"Neurodegenerative disease with chorea","classifications":[156,181]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[],"genes":[{"symbol":"HTT","name":"huntingtin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301482[PMID]_21566141[PMID]","hgnc":"4851","ensembl":"ENSG00000197386","omim":"613004","loci":["4p16.3"]},{"symbol":"SLC2A3","name":"solute carrier family 2 member 3","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"24452335[PMID]","hgnc":"11007","ensembl":"ENSG00000059804","omim":"138170","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Greece","status":"Validated","source":"21166788[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Worldwide","status":"Validated","source":"22692795[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Worldwide","status":"Validated","source":"22692795[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2019[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.6,"area":"Ireland","status":"Validated","source":"20880124[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.61,"area":"United Kingdom","status":"Not yet validated","source":"22133668[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.4,"area":"United Kingdom","status":"Not yet validated","source":"22133668[PMID]_21088431[PMID]_7994530[PMID]_9231935[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Italy","status":"Validated","source":"2151397[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.35,"area":"Italy","status":"Not yet validated","source":"2151397[PMID]_25689972[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.69,"area":"Canada","status":"Validated","source":"11595021[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"United States","status":"Validated","source":"8018043[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"United States","status":"Validated","source":"8018043[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"Japan","status":"Validated","source":"8700304[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"Australia","status":"Validated","source":"11008591[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.3,"area":"Australia","status":"Validated","source":"11008591[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.046,"area":"China","status":"Validated","source":"7586664[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.37,"area":"China","status":"Validated","source":"7586664[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.2,"area":"Slovenia","status":"Validated","source":"18976322[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Taiwan, Province of China","status":"Validated","source":"7586664[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"Taiwan, Province of China","status":"Validated","source":"7586664[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Iceland","status":"Validated","source":"22722209[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Iceland","status":"Validated","source":"22722209[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Norway","status":"Validated","source":"2938203[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.7,"area":"Sweden","status":"Validated","source":"22722209[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Greece","status":"Validated","source":"21166788[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Finland","status":"Validated","source":"2889026[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":21.0,"area":"Egypt","status":"Validated","source":"7969703[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.64,"area":"Cyprus","status":"Validated","source":"29105741[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Cyprus","status":"Validated","source":"29105741[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.94,"area":"Spain","status":"Validated","source":"33568143[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Spain","status":"Validated","source":"33568143[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Denmark","status":"Validated","source":"28155235[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-13","source":"20301482[PMID]_28221321[PMID]","terms":[{"hpo":"HP:0002072","label":"Chorea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031845","label":"Abnormal libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031843","label":"Bradyphrenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000734","label":"Disinhibition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031473","label":"Hostility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025401","label":"Staring gaze","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003107","label":"Abnormality of cholesterol metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045082","label":"Decreased body mass index","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040140","label":"Degeneration of the striatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031589","label":"Suicidal ideation","frequency":"Occasional (29-5%)","criteria":null}]}}